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20 Possible Causes for pseudogene, stereocilin

  • NADH Cytochrome B5 Reductase Deficiency

    0.305226 STRCP1 stereocilin pseudogene 1 0.305226 INADL InaD-like (Drosophila) 0.302698 ICAM4 intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) 0.299812[amp.pharm.mssm.edu] CYP familier i mennesker Mennesker har 57 gener og mere end 59 pseudogener fordelt blandt 18 familier af cytochrom P450-gener og 43 underfamilier.[deersted.com] Gene Tree for CYB5R3 (if available) TreeFam Gene Tree for CYB5R3 (if available) Paralogs for CYB5R3 gene (Paralogs according to 1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes[genecards.weizmann.ac.il]

  • Mitochondrial Non-Syndromic Sensorineural Deafness

    […] allele fraction of 14.6% is detected with 90% probability) Stretches of mononucleotide repeats Indels larger than 50bp Single exon deletions or duplications Variants within pseudogene[blueprintgenetics.com] 23 Deafness MicroRNA-96 Myosin VIIA Stereocilin MOLECULAR-GENETICS INNER-EAR SYNDROME TYPE 1D MULTIDISCIPLINARY SCIENCES TIP-LINK MECHANOSENSORY HAIR-CELLS MYOSIN-VIIA GENE[query.library.utoronto.ca] Traveling with the force of their mechanical energy, sound waves are captured by the ear and... microRNA‐96 deafness Usher syndrome myosin VIIA stereocilin cadherin 23 Cadherin[query.library.utoronto.ca]

  • Autosomal Dominant Non-Syndromic Mental Retardation

    […] transporter-like, member 11 solute carrier family 4, sodium borate transporter, member 11 SLC4A11 CDPD1 610206 16438 SRY-box 10 SRY (sex determining region Y)-box 10 SOX10 602229 11190 stereocilin[ukgtn.nhs.uk] KLHL4 Kelch-like 4 (Drosophila) Deleted Deleted RPSAP15 Ribosomal protein SA pseudogene 15 MRPS22P1 Mitochondrial ribosomal protein S22 pseudogene 1 CAPZA1P Capping protein[iovs.arvojournals.org] […] allele fraction of 14.6% is detected with 90% probability) Stretches of mononucleotide repeats Indels larger than 50bp Single exon deletions or duplications Variants within pseudogene[blueprintgenetics.com]

  • Autosomal Recessive Deafness 24

    […] transporter-like, member 11 solute carrier family 4, sodium borate transporter, member 11 SLC4A11 CDPD1 610206 16438 SRY-box 10 SRY (sex determining region Y)-box 10 SOX10 602229 11190 stereocilin[ukgtn.nhs.uk] 17226784) Khan SY … Riazuddin S (Human mutation 2007) 2 3 4 22 60 Molecular cloning, cDNA sequence, and chromosomal assignment of the human radixin gene and two dispersed pseudogenes[genecards.org] […] allele fraction of 14.6% is detected with 90% probability) Stretches of mononucleotide repeats Indels larger than 50bp Single exon deletions or duplications Variants within pseudogene[blueprintgenetics.com]

  • Autosomal Recessive Deafness 84B

    View Article Google Scholar RepeatMasker. [ ], [] Verpy E, Leibovici M, Michalski N, Goodyear RJ, Houdon C, Weil D, Richardson GP, Petit C: Stereocilin connects outer hair[genomemedicine.biomedcentral.com] Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences[fulgentgenetics.com] Allelic with type 1D Usher DFNB16 (possible second gene at 15q15) Stereocilin ( STRC) Stereocilia protein Early childhood onset (3–5 years), all frequencies moderate-to-severe[academic.oup.com]

  • Autosomal Dominant Nonsyndromic Auditory Neuropathy

    […] anti-Diaphanous Homolog 2 (Drosophila) Anticorps anti-Diaphanous Homolog 1 (Drosophila) Anticorps anti-Diacylglycerol O-Acyltransferase 2-Like 7, Pseudogene Anticorps anti-Diacylglycerol[anticorps-enligne.fr] […] transporter-like, member 11 solute carrier family 4, sodium borate transporter, member 11 SLC4A11 CDPD1 610206 16438 SRY-box 10 SRY (sex determining region Y)-box 10 SOX10 602229 11190 stereocilin[ukgtn.nhs.uk]

  • Piebald Trait - Neurologic Defects Syndrome

    - Pseudo-Cushing-Syndrom -- Pseudodemenz -- Pseudodiarrhö -- Pseudodivertikel -- Pseudoembolie -- Pseudoendokrinopathie -- Pseudoephedrin -- Pseudoexfoliationssyndrom -- Pseudogen[de.wikipedia.org] […] transporter-like, member 11 solute carrier family 4, sodium borate transporter, member 11 SLC4A11 CDPD1 610206 16438 SRY-box 10 SRY (sex determining region Y)-box 10 SOX10 602229 11190 stereocilin[ukgtn.nhs.uk]

  • Autosomal Recessive Deafness 1B

    […] transporter-like, member 11 solute carrier family 4, sodium borate transporter, member 11 SLC4A11 CDPD1 610206 16438 SRY-box 10 SRY (sex determining region Y)-box 10 SOX10 602229 11190 stereocilin[ukgtn.nhs.uk] […] allele fraction of 14.6% is detected with 90% probability) Stretches of mononucleotide repeats Indels larger than 50bp Single exon deletions or duplications Variants within pseudogene[blueprintgenetics.com]

  • Autosomal Dominant Deafness 9

    […] transporter-like, member 11 solute carrier family 4, sodium borate transporter, member 11 SLC4A11 CDPD1 610206 16438 SRY-box 10 SRY (sex determining region Y)-box 10 SOX10 602229 11190 stereocilin[ukgtn.nhs.uk] […] allele fraction of 14.6% is detected with 90% probability) Stretches of mononucleotide repeats Indels larger than 50bp Single exon deletions or duplications Variants within pseudogene[blueprintgenetics.com]

  • Deafness, Autosomal Dominant 23

    […] allele fraction of 14.6% is detected with 90% probability) Stretches of mononucleotide repeats Indels larger than 50bp Single exon deletions or duplications Variants within pseudogene[blueprintgenetics.com] […] transporter-like, member 11 solute carrier family 4, sodium borate transporter, member 11 SLC4A11 CDPD1 610206 16438 SRY-box 10 SRY (sex determining region Y)-box 10 SOX10 602229 11190 stereocilin[ukgtn.nhs.uk]

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